Ling-hui Qu

Guangzhou, 510318, China

Last Updated: 09/26/2026

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Found 10 publications

Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.

Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.

Journal: Current medical science

Published: January 23, 2024

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.

Journal: Current medical science

Published: January 16, 2024

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

Journal: International journal of ophthalmology

Published: February 17, 2022

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Journal: Bioscience reports

Published: November 13, 2020

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Journal: Bioscience reports

Published: October 15, 2019

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.

Journal: Bioscience reports

Published: May 22, 2015

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

Journal: International journal of ophthalmology

Published: November 06, 2014

Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.

Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.

Journal: Genetic testing and molecular biomarkers

Published: October 01, 2014

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

Journal: Molecular genetics and genomics : MGG

Published: June 06, 2014

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.

Journal: Lipids in health and disease

Published: February 20, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026